Mitochondrial TRNP gene
The ensemble of all mitochondrial genes is tested if a mitochondrial disorder has to be diagnosed.
Grasbon-Frodl EM et al. (1999) Two novel point mutations of mitochondrial tRNA genes in histologically confirmed Parkinson disease.
Blakely EL et al. (2009) A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features.
Moraes CT et al. (1993) A mitochondrial tRNA anticodon swap associated with a muscle disease.
Orphanet ID 205934
Update: Aug. 14, 2020